research Forme létale de syndrome de Netherton au sein d’une famille multiplex consanguine
A severe form of Netherton syndrome caused by a specific gene mutation led to neonatal deaths in a family.
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research A 15-Year-Old Girl with Trichorhinophalangeal Syndrome Type 1 with Non-ossifying Fibroma in Femur: A Case Report
A girl with a rare genetic disorder had a unique bone condition, highlighting the need for careful diagnosis and suggesting the disorder might be more common than thought.
research Triple-Negative Sjogren’s Syndrome and Recurrent Pneumothorax: An Uncommon Presentation of Autoimmune Disease
Recurrent pneumothorax can occur in Sjogren's syndrome, even without common markers.
research Psychosis as a late manifestation of Sheehan’s syndrome
Sheehan's syndrome can sometimes cause psychosis.
research Isomorphic and isotopic phenomenon occurring simultaneously in a case of granuloma annulare
A patient with granuloma annulare experienced both isotopic and isomorphic responses, with skin lesions responding to steroids but relapsing after stopping treatment.
research SAT-214 Satoyoshi Syndrome: A Rare Cause of Premature Ovarian Failure
Satoyoshi syndrome can occur without causing premature ovarian failure.
research Buschke-Ollendorff syndrome
Buschke-Ollendorff syndrome is a rare genetic disorder causing skin and bone changes, with some cases also showing ADHD or developmental delays.
research Abstract 21: Preoperative Versus Postoperative Language Specialization in Infants with Sagittal Craniosynostosis: An ERP Study
Surgery may help infants with sagittal craniosynostosis develop more typical language processing.
research Unilateral Straight Hair—A Symptom of Acquired Horner's Syndrome in a Neonate
A baby girl's hair turned straight on one side due to a neck tumor and surgery, but it returned to curly as she recovered.
research Alopecia areata. How not to miss S atoyoshi syndrome?
Patients with alopecia areata should be checked for muscle spasms, diarrhea, and ANA to avoid missing Satoyoshi syndrome.
research Cushing Syndrome from Percutaneous Absorption of 1% Hydrocortisone Ointment in Netherton Syndrome
Low-potency steroids can cause serious side effects in people with skin conditions like Netherton syndrome.
research Sjogren-Larsson Syndrome
If someone has scaly skin, muscle stiffness, and intellectual disability, doctors should consider Sjogren-Larsson Syndrome, but other conditions if more symptoms are present.
research A Case of Trichorhinophalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.
research Vulvovaginal involvement in Netherton syndrome: A case report
Netherton syndrome can cause severe and chronic vulvovaginal symptoms that may improve with continuous oral contraceptives.
research PRZYPADEK POLEKOWEJ MARTWICY ŻUCHWY (MRONJ)
Bisphosphonate therapy can cause jawbone necrosis, so dental care is crucial before and during treatment.
research Neonatal Ichthyosis and Sclerosing Cholangitis Syndrome
NISCH syndrome is a rare genetic disorder affecting skin and liver, with variable symptoms and limited treatment options.
research Trichoscopy in Unveiling the Triad of Netherton Syndrome
Trichoscopy helps accurately diagnose Netherton syndrome, often mistaken for atopic dermatitis.
research Netherton syndrome subtypes share IL-17/IL-36 signature with distinct IFN-α and allergic responses
Netherton syndrome has two subtypes with shared immune traits but different allergic and immune responses, suggesting targeted treatments.
research Parry Romberg Syndrome: When the Diagnosis of a Rare Disease Is Made in the Primary Care Setting
Parry Romberg syndrome requires awareness and teamwork in primary care for proper diagnosis and management.
research A syndrome of congenital ichthyosis, mental retardation, myopathy and anemia in dizygotic twin sisters
The twins' condition is unique and doesn't match any known syndromes.
research Case report of Schöpf–Schulz–Passarge syndrome resulting from a missense mutation, p.Arg104Cys, in WNT 10A
A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
research Netherton Syndrome – Responding to Oral Retinoids
Oral Acitretin effectively resolved symptoms in a child with Netherton syndrome.
research Parry–Romberg Syndrome: Radioclinical Dissociation in a Paucisymptomatic Form and a Proposed Diagnostic Framework
Parry–Romberg Syndrome can involve the brain even without obvious symptoms, and a new diagnostic framework is suggested for early detection.
research Netherton Syndrome With Trichorrhexis Invaginata “Bamboo Hair” Under Dermoscopy: Case Images
Netherton syndrome causes skin and hair issues, confirmed by "bamboo hair" under dermoscopy, with no cure but managed with topical treatments.
research Congenital cataract and slowly progressing facial skin lesions in a 5‐year‐old boy
A 5-year-old boy has Nevus Comedonicus Syndrome, causing skin lesions and a cataract.
research Syndromic or non-syndromic congenital ichthyosis? A case report of two brothers with ichthyosis but microphthalmia and blindness in only one brother
The brothers have congenital ichthyosis, and the older brother's eye issues are due to different genetic mutations.
research [A case of "syndrome of progressive muscle spasm, alopecia, and diarrhea (Satoyoshi)" treated with steroid pulse therapy].
Steroid pulse therapy improved symptoms in a man with Satoyoshi syndrome.
research Clouston’s Syndrome-A Case Report
Clouston syndrome causes issues with teeth, hair, nails, and skin, and has no cure, but recognition has improved.
research Radiographic Findings of Shoulder Involvement in Ankylosing Spondylitis
The patient with Ankylosing Spondylitis had shoulder joint damage and bone changes.
research Netherton's Syndrome.
A 7-year-old girl was diagnosed with Netherton's Syndrome, shown by skin and hair symptoms.